Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Megakaryocyte dysplasia, Pancytop... |
OMIM:619041 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Pancytopenia, Anemia of inadequate production, Acute myeloid leukemia, Neutro... |
ORPHA:75564 |
Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, B... |
ORPHA:318 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... |
OMIM:618963 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Megakaryocytopenia, Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Intrauterine growth retardation, Hepatosplenomegaly, Pancytopenia, Splenomegaly... |
OMIM:610333 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... |
OMIM:614470 |
Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Mega... |
ORPHA:859 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Clinodactyly, Intrauterin... |
ORPHA:2169 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myelo... |
OMIM:616435 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
Primary Myelofibrosis |
|
Abnormal bone marrow cell morphology, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytope... |
ORPHA:824 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Decreased CSF 5-methyltetr... |
OMIM:613839 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,... |
OMIM:614742 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... |
ORPHA:2133 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... |
OMIM:308240 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Ventriculomegaly, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia, Single transverse pa... |
ORPHA:251009 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Bone Marrow Failure Syndrome 1 |
|
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia |
OMIM:614675 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,... |
OMIM:614743 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Failure to thrive, Reduced natural killer cell activity, Pancy... |
OMIM:616050 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... |
OMIM:300635 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Abnormality of bone marrow stromal ce... |
ORPHA:86843 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased CSF protein concentration, Reduced natural killer cell count, Hemophagocytosis, Hepatos... |
ORPHA:158057 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Sterile abscess, ... |
OMIM:604416 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa... |
OMIM:619858 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Short thumb, Persistence of hemoglobin F, M... |
OMIM:612561 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Lymphedema, Primary, With Myelodysplasia |
|
Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Long fingers, Leukemia, Tapered fi... |
OMIM:614038 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Hepatic fibros... |
OMIM:617341 |
Oslam Syndrome |
|
Radioulnar synostosis, Abnormality of neutrophils, Clinodactyly of the 5th finger, Increased mean... |
ORPHA:2760 |
Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv... |
OMIM:617052 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Megakaryocyte nucleus hypolobula... |
OMIM:614172 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Hydrocephalu... |
ORPHA:398124 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventriculomegaly, Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impai... |
OMIM:614576 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o... |
OMIM:620367 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hepatic steatosis, Failure to thrive |
OMIM:617872 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Premature grayin... |
OMIM:127550 |
Congenital Toxoplasmosis |
|
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Abnormality of r... |
ORPHA:858 |
Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray... |
OMIM:619767 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... |
OMIM:615122 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir... |
ORPHA:85212 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, In... |
OMIM:606003 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Premature gray... |
OMIM:613989 |
Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Genu valgum, Hydrocephalus, Throm... |
OMIM:259710 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level... |
OMIM:275350 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal bone marrow cell morphology, Pancytopenia, Decreased propor... |
ORPHA:101096 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... |
OMIM:618394 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Flared metaphysis, Pancytopenia, Splenomegaly, Hepatomegaly, Femur fracture, H... |
OMIM:259700 |
Majeed Syndrome |
|
Failure to thrive, Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadeq... |
OMIM:609628 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased CSF protein concentration, Hemophagocytosis, Failure to thrive, Reduced natural killer ... |
OMIM:603553 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Reticulated skin pigmenta... |
OMIM:613987 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level... |
OMIM:614700 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... |
OMIM:615234 |
Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... |
ORPHA:811 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Failure to thrive, Panhypogammaglobulinemia, Lack of T cell function, Pan... |
ORPHA:572 |
Fanconi-Like Syndrome |
|
Pancytopenia |
OMIM:227850 |
Aplastic Anemia |
|
Bone marrow hypocellularity, Aplastic anemia |
OMIM:609135 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Bone marrow hypercellularity, Weight loss, Lymphadenopath... |
ORPHA:520 |
Bangstad Syndrome |
|
Pancytopenia, Small for gestational age |
OMIM:210740 |
Gaucher Disease, Type I |
|
Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly... |
OMIM:230800 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... |
OMIM:616860 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bone marrow cell morpholo... |
ORPHA:86839 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Bone marrow hypocellularity, Intrauterine growth retardation, Pancytopenia, Aplastic anemia |
OMIM:616553 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased ... |
ORPHA:90045 |
Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Absent thumb, Short thumb, Absent radius, Pancytopenia, Intrauterine... |
OMIM:227645 |
Schimke Immunoosseous Dysplasia |
|
Hypermelanotic macule, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Pancytopenia, Ab... |
OMIM:242900 |
Propionic Acidemia |
|
Failure to thrive, Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Increased mean corpuscular volume, Short thumb, Intrauterine growth re... |
OMIM:612562 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia... |
OMIM:613990 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Panhypogammaglobul... |
ORPHA:79124 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Exocrine pancrea... |
OMIM:260400 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Absent radius, Pancytopenia, Anemia, Reticulocytopenia, Hyperpigmentat... |
OMIM:600901 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... |
OMIM:615285 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Hatipoglu Immunodeficiency Syndrome |
|
Hyperpigmented/hypopigmented macules, Failure to thrive, Fair hair, Premature graying of hair, In... |
OMIM:620331 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... |
OMIM:206100 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia |
OMIM:613845 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormality of bone marrow stromal cells, Abnormal neutrophil morpho... |
ORPHA:86841 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Absent radius, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, T... |
OMIM:227650 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Mild intrauterine growth retardation, Increased HbA2 hemoglobin, Decreased mean corpuscular volum... |
OMIM:616943 |
Griscelli Syndrome |
|
Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Hepatitis, Hypopigmented sk... |
ORPHA:381 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Radial bowing, Ulnar bowing, Limited pronation/supination of forearm, Congenital... |
OMIM:605432 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Bone marrow hypocellularity, Pancytopenia, Abnormality of skin pigmentation |
OMIM:613988 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Clinodactyly, Failure to thrive in infancy, Pancytopenia, Hypersplenism, Portal hypert... |
OMIM:613385 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Hepatosplenomegaly,... |
ORPHA:77259 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemoly... |
OMIM:611590 |
Osteopetrosis, Autosomal Recessive 5 |
|
Ventriculomegaly, Stillbirth, Extramedullary hematopoiesis, Flared metaphysis, Hepatosplenomegaly... |
OMIM:259720 |
Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Aplasia of the 1st metacarpal, Annular pancreas, Absent thumb, Short... |
OMIM:227646 |
Fanconi Anemia, Complementation Group P |
|
Absent thumb, Short thumb, Pancytopenia, Vitiligo, Hypoplasia of the radius, Anemia, Cafe-au-lait... |
OMIM:613951 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Absent thumb, Persistence... |
ORPHA:124 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Reticular hyperpigm... |
OMIM:224230 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly |
OMIM:615938 |
Lig4 Syndrome |
|
Failure to thrive, Pancytopenia, Thrombocytopenia, Clinodactyly of the 5th finger, Acute lymphobl... |
OMIM:606593 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Increased mean corpuscular volume, Colpocephaly, Thrombocytopenia, Proximal pla... |
ORPHA:261250 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Failure to thrive, Pancytopenia, Hepatomegaly, Talipes equinovarus, Megaloblastic anemia, Thrombo... |
OMIM:277380 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Failure to thrive, Absent thumb, Persistence of hemoglobin F, ... |
OMIM:105650 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... |
ORPHA:158048 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth... |
OMIM:620133 |
Lig4 Syndrome |
|
Acute leukemia, Abnormal bone marrow cell morphology, Pancytopenia, Leukocytosis, Lymphadenopathy... |
ORPHA:99812 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Elevated hepatic iron concentrat... |
ORPHA:300298 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Failure to thrive, Fair hair, Splenomegaly, Hydrocephalus, Hepatome... |
OMIM:269920 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly |
OMIM:615937 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Clinodactyly, Failure to thrive in infancy, Hepatosplenomegaly, Pancytopenia, Hyperspl... |
ORPHA:228426 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopigmentation of th... |
ORPHA:167 |
Fanconi Anemia, Complementation Group B |
|
Bilateral radial aplasia, Ventriculomegaly, Absent thumb, Aplastic anemia, Intrauterine growth re... |
OMIM:300514 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
Seckel Syndrome 1 |
|
Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Intrauterine growth retarda... |
OMIM:210600 |
Spondyloenchondrodysplasia |
|
Short distal phalanx of finger, Ventriculomegaly, Granuloma, Hepatitis, Pancytopenia, Vitiligo, A... |
ORPHA:1855 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... |
ORPHA:231222 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Acute myeloid leukemia, H... |
OMIM:619151 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Bone spicule pigmentation of the retina, Hypochromia, P... |
OMIM:616959 |
Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hepatom... |
OMIM:557000 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Livedoid Vasculopathy |
|
Hyperpigmented streaks, Polycythemia, Pancytopenia, Leukocytosis, Hyperpigmentation of the skin, ... |
ORPHA:542643 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Umbilical hernia, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Brachydactyly... |
OMIM:620654 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Pearson Syndrome |
|
Bone marrow hypocellularity, Pigmentary retinopathy, Abnormal bone marrow cell morphology, Exocri... |
ORPHA:699 |
Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia, D... |
ORPHA:99867 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hydrocephalus, Anemia |
ORPHA:163596 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... |
OMIM:615688 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Ventriculomegaly, Failure to thrive, Hepatocellular necrosis, He... |
OMIM:618278 |
Elliptocytosis 3 |
|
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... |
OMIM:617948 |
Castleman Disease |
|
Myelofibrosis, Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy,... |
ORPHA:160 |
Alpha-Mannosidosis, Adult Form |
|
Hepatosplenomegaly, Pancytopenia |
ORPHA:309288 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Revesz Syndrome |
|
Bone marrow hypocellularity, Aplastic anemia, Intrauterine growth retardation, Macrocytic anemia,... |
OMIM:268130 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Anemia, Pancytopenia |
OMIM:607426 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Hydrocephalus, Pancytopenia, Splenomegaly |
OMIM:231005 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Pancytopenia, Umbilical hernia |
ORPHA:85321 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Melanocytic nevus, Hydrocephalus |
ORPHA:1008 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Megaloblastic bone marrow, Failure to thrive |
ORPHA:26 |
Mirage Syndrome |
|
Radial club hand, Lymphopenia, Leukopenia, Intrauterine growth retardation, Overlapping fingers, ... |
OMIM:617053 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatitis, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Hepatic steatosis, Increa... |
OMIM:615846 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Talipes equinovarus, Failure to thrive |
ORPHA:250994 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Jaundice, Failure to thrive |
OMIM:129850 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Small hand, Hydrocephalus |
OMIM:300884 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Short thumb, Absent thumb, Acute myeloid leukemia, Hyperpigmentation of the skin... |
OMIM:610832 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Polydactyly, Hydrocephalus, Leukemia, Syndactyly |
OMIM:602501 |
Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Absent thumb, Radial dysplasia, Hydrocephalus, Anemia |
OMIM:617244 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Genu valgum, Abnormal leukocyte morphology, Abnormal metacarpal m... |
ORPHA:53 |
Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia, Failure to thrive |
OMIM:245200 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,... |
ORPHA:77261 |
Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Premature graying of hair, Pancytopenia, Leukopenia, Intrauterine gr... |
OMIM:305000 |
Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Ventriculomegaly, Hepatitis, Pancytopenia, Leukopenia, Spleno... |
ORPHA:355 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ventriculomegaly, Pancytopenia |
OMIM:618321 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Ventriculomegaly, Abnormality of the spleen, Hepatosplenomegaly... |
ORPHA:2072 |
Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Failure to thrive, Finger syndactyly, Leukopenia, Absent hand, Po... |
ORPHA:974 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Ventriculomegaly, Cholestasis, Obesity, Genu valgum, Splenomegaly, Brachydactyl... |
OMIM:615630 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypopigmentation of the skin, Aplastic anemia, Patellar hypoplasia, Metaphyseal sclerosis, Patell... |
ORPHA:221008 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Rothmund-Thomson Syndrome |
|
Hypopigmentation of the skin, Aplastic anemia, Aplasia/Hypoplasia of the radius, Short thumb, Ret... |
ORPHA:2909 |
Mccune-Albright Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Cholestasis, Pancytopenia, Abnormal femur morphology, Lar... |
ORPHA:562 |
Degcags Syndrome |
|
Toe syndactyly, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia, Genu va... |
OMIM:619488 |
Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Leukopenia, Enlarged tonsils, Hepat... |
ORPHA:2785 |
Rothmund-Thomson Syndrome Type 2 |
|
Hypopigmentation of the skin, Aplastic anemia, Patellar hypoplasia, Metaphyseal sclerosis, Abnorm... |
ORPHA:221016 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Icf Syndrome |
|
Umbilical hernia, Lymphopenia, Communicating hydrocephalus, Anemia, Abnormality of neutrophils, D... |
ORPHA:2268 |
Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis, R... |
OMIM:231095 |
Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Large hands, Decreased body weight |
ORPHA:1672 |
Abcd Syndrome |
|
Polycythemia, Large for gestational age, Neonatal death, White eyebrow, White eyelashes, Albinism |
OMIM:600501 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Failure to thrive, Cholestasis, Slender build, Intrauterine growth ret... |
OMIM:613658 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Umbilical hernia, Pre... |
ORPHA:380 |
Alpha-Mannosidosis, Infantile Form |
|
Umbilical hernia, Hepatosplenomegaly, Pancytopenia, Genu valgum, Cortical thickening of long bone... |
ORPHA:309282 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Arachnodactyly, Hydroceph... |
ORPHA:2720 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody leve... |
OMIM:181000 |
Martin-Probst Syndrome |
|
Pancytopenia, Umbilical hernia |
OMIM:300519 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... |
OMIM:175700 |
Nasu-Hakola Disease |
|
Ventriculomegaly, Acute leukemia, Hydrocephalus |
ORPHA:2770 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Avascular necrosis of the capi... |
OMIM:619377 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Rocker bottom foot, Hypoplastic spleen, Adducted thumb |
ORPHA:89844 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Failure to thrive, Increased CSF lactate, Intrauterine growth retardation, Incr... |
OMIM:616034 |
Gracile Bone Dysplasia |
|
Failure to thrive, Flared metaphysis, Brachydactyly, Hydrocephalus, Asplenia, Hypoplastic spleen |
OMIM:602361 |
Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
B4Galt1-Cdg |
|
Splenomegaly, Hydrocephalus, Hepatomegaly, Small for gestational age, Dandy-Walker malformation |
ORPHA:79332 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Hydrocephalus |
OMIM:619470 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... |
ORPHA:447 |
Kleeblattschaedel |
|
Elbow ankylosis, Hydrocephalus |
OMIM:148800 |
Temple Syndrome |
|
Small hand, Clinodactyly, Intrauterine growth retardation, Obesity, Hydrocephalus, Truncal obesit... |
OMIM:616222 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Whipple Disease |
|
Generalized hyperpigmentation, Splenomegaly, Hepatomegaly, Cachexia, Hydrocephalus, Anemia, Media... |
ORPHA:3452 |
Temple Syndrome |
|
Small hand, Few cafe-au-lait spots, Obesity, Hydrocephalus, Clinodactyly of the 5th finger, Short... |
ORPHA:254516 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Aplastic anemia, Intrauterine growth retardation, Decreased circ... |
OMIM:223370 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Lateral ventricle dilatation, Decreased circulating IgA level, S... |
OMIM:612301 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly |
ORPHA:945 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Genu valgum, Pseudoepiphyses of hand bones, Talipes equinovarus, Hydrocephalus, Meta... |
OMIM:613330 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Hydrocephalus, Umbilical hernia |
ORPHA:1516 |
Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation... |
ORPHA:499009 |
Biemond Syndrome Ii |
|
Hydrocephalus, Preaxial hand polydactyly |
OMIM:210350 |
Biemond Syndrome Type 2 |
|
Obesity, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecysti... |
ORPHA:99827 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Thrombocytopenia |
ORPHA:1237 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Umbilical hernia, Obesity, Bowing of the long bones, Radioulnar synostosis, Hydro... |
ORPHA:171839 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short 4th metacarpal, Cubitus valgus, Obesity, Hydrocephalus |
ORPHA:2183 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Brain abscess, Abnormality of the liver, Iron deficiency anemi... |
ORPHA:97214 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Camptodactyly of finger |
ORPHA:272 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Bilateral talipes equinovarus, Obesity, Hydrocephalus |
OMIM:616521 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age |
OMIM:618302 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Bilateral talipes equinovarus, Hydrocephalus |
OMIM:618174 |
Alexander Disease Type I |
|
Hydrocephalus, Cachexia, Failure to thrive |
ORPHA:363717 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hand muscle weakness, Triceps weakness, Abnormality of the hand, Hydrocephalus, Paresis of extens... |
ORPHA:99947 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
Edinburgh Malformation Syndrome |
|
Slender finger, Ulnar deviation of finger, Failure to thrive, Hydrocephalus, Long fingers, Brushf... |
ORPHA:1895 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Sandal gap, Camptodactyly of finger, Single transverse palmar crease, 2-3 toe syndactyly, Hallux ... |
OMIM:619951 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial... |
OMIM:614120 |
Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Broad thumb, Broad hallux, Splenomegaly, H... |
OMIM:272200 |
Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Absent thumb, Intrauterine growth retardation, Hydrocephalus, Absent... |
OMIM:614083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
Dubowitz Syndrome |
|
Small hand, Toe syndactyly, Broad thumb, Sandal gap, Intrauterine growth retardation, Clinodactyl... |
ORPHA:235 |
Thanatophoric Dysplasia Type 2 |
|
Ventriculomegaly, Micromelia, Encephalocele, Brachydactyly, Hydrocephalus, Holoprosencephaly, Abn... |
ORPHA:93274 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Hydrocephalus, Ventriculomegaly, Clinodactyly |
OMIM:618577 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Postaxial foot polydactyly, Occipital... |
OMIM:607361 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Stomatocytosis, Hypoglycorrhachia, Hepatosplenomegaly, Brachydactyl... |
ORPHA:168577 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Abn... |
ORPHA:505248 |
Thanatophoric Dysplasia |
|
Ventriculomegaly, Micromelia, Intrauterine growth retardation, Brachydactyly, Hydrocephalus, Abno... |
ORPHA:2655 |
Proteus-Like Syndrome |
|
Irregular hyperpigmentation, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Hydrocephalu... |
ORPHA:2969 |
Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Myelomeningocele, Intrauterine growth retardation, Brachydactyly,... |
ORPHA:1914 |
H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Hyperpigmentation of the skin, Hallux valgus, Lymphadenopa... |
ORPHA:168569 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Melanocytic nevus, Hydrocephalus |
OMIM:612247 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Hypopigmented skin patches, Finger syndactyly, Wei... |
ORPHA:84 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Genu valgum, Hydrocephalus |
OMIM:248000 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Increased CSF lactate, Leukocytosis, Hydrocephalus, Hyperglycorrhachia |
ORPHA:90065 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Multiple Sulfatase Deficiency |
|
Broad thumb, Abnormality of retinal pigmentation, Splenomegaly, Hydrocephalus, Hepatomegaly, Broa... |
ORPHA:585 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Finger syndactyly, Micromelia, Intrauterine growth retardation, Encephalocele,... |
ORPHA:1908 |
Pallister-Hall-Like Syndrome |
|
Postaxial foot polydactyly, Toe syndactyly, Occipital encephalocele, Micromelia, Hydrocephalus, P... |
OMIM:241800 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Colpocephaly, Hydrocephalus... |
OMIM:619833 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Metatropic Dysplasia |
|
Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, Hydrocephalus, Clinoda... |
ORPHA:2635 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Hydrocephalus, Adducted thumb, Umbilical hernia |
ORPHA:2181 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Toe syndactyly, Finger syndactyly, Failure to thrive, Hand polydactyly, Hydroce... |
ORPHA:60040 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Postaxial hand polydactyly |
ORPHA:83473 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Obesity, Hydrocephalus, Brachydactyly, Abnormality of skin pigmentation |
ORPHA:2180 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Distal shortening of limbs, ... |
OMIM:300863 |
Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Short toe, Short finger, Intrauterine growth retardation, Bowing of the arm,... |
OMIM:269860 |
Mucopolysaccharidosis, Type Ii |
|
Umbilical hernia, Hepatosplenomegaly, Splenomegaly, Abnormality of retinal pigmentation, Split ha... |
OMIM:309900 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Failure to thrive, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia,... |
OMIM:277400 |
Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Polysplenia, Abnormal tibia morphology, Absent gallbladder, Enc... |
ORPHA:1335 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Desmosterolosis |
|
Ventriculomegaly, Micromelia, Failure to thrive, Intrauterine growth retardation, Splenomegaly, H... |
ORPHA:35107 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly, Small for gestational age, Failure to thrive |
OMIM:609757 |
Jacobsen Syndrome |
|
Annular pancreas, Failure to thrive, Intrauterine growth retardation, Brachydactyly, Thrombocytop... |
OMIM:147791 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Prominent fingertip pads |
OMIM:300558 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Dislocated radial head, Hydrocephalus |
OMIM:304100 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Numerous congenital melanocytic nevi, Hydrocephalus, Dandy-Walker malfo... |
OMIM:249400 |
Bresek Syndrome |
|
Postaxial hand polydactyly, Intrauterine growth retardation, Hydrocephalus, Neonatal death |
ORPHA:85284 |
Muenke Syndrome |
|
Hypopigmented skin patches, Hypermelanotic macule, Carpal synostosis, Hydrocephalus, Short palm, ... |
ORPHA:53271 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly |
OMIM:220220 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxia... |
OMIM:611134 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Failure to thrive, Umbilical hernia, Intrauterine growth retardation, Drumstick terminal phalange... |
OMIM:612938 |
Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Polysplenia, Hydrocephalus, Asplenia, Clubbing |
ORPHA:244 |
Congenital Sialidosis Type 2 |
|
Umbilical hernia, Hepatosplenomegaly, Polydactyly, Hydrocephalus, Hepatomegaly |
ORPHA:93400 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Weight loss, Abnormality of skin pigmentation |
ORPHA:99921 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Portal hypertension, Splenomegaly, Congenital hepatic fibrosis, Intrahep... |
ORPHA:1454 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short 5th finger, Toe clinodactyly, Absent gallbladder, Bulbous tips of toes, 2-3 toe syndactyly,... |
ORPHA:163979 |
Coccidioidomycosis |
|
Increased CSF protein concentration, Granuloma, Hypoglycorrhachia, Abnormality of the spleen, Abn... |
ORPHA:228123 |
Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... |
ORPHA:2437 |
Triploidy |
|
Finger syndactyly, Intrauterine growth retardation, Abnormality of the gallbladder, Hydrocephalus... |
ORPHA:3376 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Intrauterine growth... |
ORPHA:163966 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:613153 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Abnormality of retinal pigmentation |
ORPHA:397951 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Brachydactyly, Abnormality of the elbow |
ORPHA:2701 |
Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus |
OMIM:616362 |
Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Absent distal phalanges, Single transverse palmar crease, Hydroceph... |
OMIM:614219 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Abnormality of the liver, Hydrocephalus |
ORPHA:1834 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pigmentary retinopathy, Failure to thrive, Intrauterine growth retardation, Megaloblastic anemia,... |
ORPHA:79282 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Portal fibrosis, Hydrocephalus, Congenital hepatic fibrosis |
OMIM:619111 |
Crouzon Syndrome |
|
Hydrocephalus, Melanocytic nevus, Hypopigmented skin patches |
ORPHA:207 |
Hurler Syndrome |
|
Umbilical hernia, Hepatosplenomegaly, Splenomegaly, Hypoplasia of the femoral head, Hepatomegaly,... |
OMIM:607014 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Hydrocephalus, Stillbirth, Aqueductal stenosis |
OMIM:276950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:93262 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Leukemia, Small for gestational... |
OMIM:257300 |
Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Ventriculomegaly, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equ... |
OMIM:617822 |
Ciliary Dyskinesia, Primary, 53 |
|
Dilated fourth ventricle, Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Syndactyly |
OMIM:220210 |
Achondroplasia |
|
Rhizomelia, Obesity, Limited elbow extension, Trident hand, Limb undergrowth, Short proximal phal... |
ORPHA:15 |
Tetrasomy 5P |
|
Failure to thrive, Overlapping toe, Talipes equinovarus, Short hallux, Hydrocephalus, Long finger... |
ORPHA:3309 |
Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus |
OMIM:616355 |
Mucopolysaccharidosis, Type Vii |
|
Umbilical hernia, Genu valgum, Splenomegaly, Talipes equinovarus, Hydrocephalus, Metatarsus adduc... |
OMIM:253220 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Long hallux, Intrauterine growth retardation, Cone-shaped epiphyses of... |
OMIM:101800 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Umbilical hernia, Hydrocephalus, Broad toe, Short 2nd toe, Clinodactyly o... |
OMIM:612582 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Ventriculomegaly, Finger syndactyly, Hypopigmented skin patches, ... |
ORPHA:1647 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:163961 |
Emanuel Syndrome |
|
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker... |
OMIM:609029 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi... |
ORPHA:2839 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Cardiofaciocutaneous Syndrome 1 |
|
Failure to thrive, Multiple lentigines, Splenomegaly, Cubitus valgus, Deep palmar crease, Hyperpi... |
OMIM:115150 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Single transverse palmar creas... |
OMIM:617866 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus |
ORPHA:370959 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilata... |
OMIM:620371 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Genu valgum, Leukocytosis, Hepatic steatosis, Hydrocephalus, Gen... |
OMIM:619321 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Bowed forearm bones, Hydrocephalus,... |
OMIM:602200 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Hydrocephalus, Intrauterine growth retardation, Failure to thrive |
OMIM:612940 |
Hurler Syndrome |
|
Abnormal diaphysis morphology, Camptodactyly of finger, Splenomegaly, Abnormality of the tonsils,... |
ORPHA:93473 |
Tetrasomy 15Q26 |
|
Intrauterine growth retardation, Arachnodactyly, Hydrocephalus, Camptodactyly, Dandy-Walker malfo... |
OMIM:614846 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Fg Syndrome Type 1 |
|
Ventriculomegaly, Clinodactyly of the 2nd finger, Finger syndactyly, Umbilical hernia, Slender bu... |
ORPHA:93932 |
Hydrocephalus, Congenital, X-Linked |
|
Hydrocephalus, Aqueductal stenosis, Adducted thumb, Thumb contracture |
OMIM:307000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Thanatophoric Dysplasia Type 1 |
|
Ventriculomegaly, Micromelia, Femoral bowing, Bowing of the long bones, Split hand, Brachydactyly... |
ORPHA:1860 |
Dextrocardia |
|
Hydrocephalus, Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
Stromme Syndrome |
|
Accessory spleen, Preaxial polydactyly, Hydrocephalus, Stillbirth |
OMIM:243605 |
Emanuel Syndrome |
|
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker... |
ORPHA:96170 |
Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Large placenta, Bowing of the ... |
OMIM:249000 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Joint contracture of the hand, Micromelia, Encephalocele, Bowing of the long bones, Adducted thum... |
OMIM:224400 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Failure to thrive |
OMIM:620157 |
Meckel Syndrome |
|
Accessory spleen, Postaxial foot polydactyly, Preaxial hand polydactyly, Encephalocele, Congenita... |
ORPHA:564 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Hydrocephalus, Split hand, Abnormality of the tonsils, Abnormal metaphysis morphology |
ORPHA:579 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Thanatophoric Dysplasia, Type I |
|
Flared metaphysis, Femoral bowing, Neonatal death, Bowing of the long bones, Hydrocephalus, Metap... |
OMIM:187600 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Obesity, Hydrocephalus |
OMIM:601794 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Slender toe, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
1Q21.1 Microdeletion Syndrome |
|
Broad thumb, Toe syndactyly, Failure to thrive, Intrauterine growth retardation, Clinodactyly of ... |
ORPHA:250989 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker m... |
OMIM:225790 |
Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Si... |
OMIM:612651 |
Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... |
OMIM:101600 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Failure to thrive, Carpal synostosis, Myelomeningo... |
ORPHA:90652 |
Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... |
ORPHA:93259 |
Nephronophthisis 18 |
|
Cholestasis, Portal fibrosis, Hydrocephalus |
OMIM:615862 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida |
OMIM:207950 |
Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Absent gallbladder, Hepati... |
OMIM:612284 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Single transverse palmar crease, Short palm, Clinodactyly of the 5th finger, Short foot, Noncommu... |
OMIM:619320 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Intrauterine growth retardation, Abnormality of the gallbladder, B... |
ORPHA:2075 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Small hand, Dilated third ventricle, Ventriculomegaly, Failure to thrive, Hydrocephalus, Short fo... |
ORPHA:500055 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Small hand, Sandal gap, Prominent fingertip pads, Lateral ventricle dilatation, Intrauterine grow... |
OMIM:612863 |
Lowry-Maclean Syndrome |
|
Intrauterine growth retardation, Abnormality of the abdominal organs, Hydrocephalus, Single trans... |
ORPHA:2409 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hydrocephalus, Coxa valga |
OMIM:109120 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Bowing of the long bones, Hepatomegaly, Lymphadenopathy, Hydrocephalus, Anemia, Abn... |
ORPHA:667 |
Hyperparathyroidism, Transient Neonatal |
|
Ventriculomegaly, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Splenic cyst, Communicatin... |
OMIM:618188 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Brain abscess, Femoral bowing, Tibial bowing, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
Chromosome 17P13.1 Deletion Syndrome |
|
Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Arachnodactyly, Hallux va... |
OMIM:613776 |
Trisomy 17P |
|
Clinodactyly of the 5th finger, Intrauterine growth retardation, Hydrocephalus, Tapered finger |
ORPHA:261290 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Melanocytic nevus, Arachnodactyly, Hydrocephalus, Long fingers, ... |
OMIM:616914 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Failure to thrive, Impaired T cell function, Umbilical hernia, Hypopigmented skin... |
ORPHA:567 |
Joubert Syndrome 14 |
|
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
3C Syndrome |
|
Ventriculomegaly, Finger syndactyly, Hand polydactyly, Hydrocephalus, Brachydactyly, Dandy-Walker... |
ORPHA:7 |
Aase-Smith Syndrome I |
|
Slender finger, Talipes equinovarus, Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormality of ski... |
ORPHA:626 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus, Abnormality of the pancreas |
ORPHA:1926 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hydrocephalus, Decreased body weight |
OMIM:614886 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Umbilical hernia, Genu valgum, Splenomegaly, Split hand, Metaphyseal widenin... |
OMIM:253200 |
L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis, Adducted thumb |
ORPHA:275543 |
Microphthalmia, Syndromic 9 |
|
Intrauterine growth retardation, Multilobulated spleen, Hypoplastic spleen, Neonatal death |
OMIM:601186 |
Distal Triplication 15Q |
|
Intrauterine growth retardation, Large for gestational age, Arachnodactyly, Hydrocephalus, Campto... |
ORPHA:314588 |
Cousin Syndrome |
|
Hydranencephaly, Joint contracture of the hand, Rhizomelia, Dislocation of the femoral head, Fibu... |
OMIM:260660 |
Trisomy 1Q |
|
Ventriculomegaly, Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Arachnodact... |
ORPHA:261344 |
Hydrolethalus |
|
Hydrocephalus, Anencephaly, Micromelia, Postaxial hand polydactyly |
ORPHA:2189 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Elbow dislocation, Short ... |
ORPHA:1106 |
Holoprosencephaly |
|
Spinal dysraphism, Failure to thrive in infancy, Abnormality of the spleen, Branchial anomaly, En... |
ORPHA:2162 |
Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive |
OMIM:231670 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Hydrocephalus |
OMIM:218350 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Clubbing of fingers, Encephalocele, Talipes equinovarus, Limb undergrowth, Hydrocepha... |
ORPHA:1865 |
Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... |
OMIM:252100 |
Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... |
ORPHA:221120 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Palmoplantar keratoderma, Umbilical hernia, Melanocytic nevus, Hydrocephalus, Palmoplantar cutis ... |
ORPHA:1555 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Neonatal death, Hand polydactyly, Hydrocephalus, Absent radius, Proximal placement... |
OMIM:314390 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly |
OMIM:620156 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Small hand, Bilateral single transverse palmar creases, Hydrocephalus, Camptodactyly, Dandy-Walke... |
ORPHA:459061 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Ventriculomegaly, Hydrocephalus |
OMIM:603387 |
Joubert Syndrome 2 |
|
Postaxial foot polydactyly, Enlarged fossa interpeduncularis, Failure to thrive, Encephalocele, H... |
OMIM:608091 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Hypopigmentation of the skin, Hydrocephalus, Single transverse palmar crease |
OMIM:614969 |
Monosomy 18Q |
|
Failure to thrive, Slender build, Decreased circulating IgA level, Arachnodactyly, Talipes equino... |
ORPHA:1600 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Communicating hydrocephalus |
OMIM:244400 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Rhizomelia, Sandal gap, Flared metaphysis, Elbow flexion contracture, Bilate... |
OMIM:245600 |
Rhombencephalosynapsis |
|
Ventriculomegaly, Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complet... |
ORPHA:59315 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Annular pancreas, 2-3 toe syndactyly, Brachydactyly, Hydrocephalus, Decreased circula... |
OMIM:618162 |
Hajdu-Cheney Syndrome |
|
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Failure to thrive, Short to... |
ORPHA:955 |
Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Abdominal situs inversus, Polysplenia, Myelomeningocele, Biliary atresia, Aque... |
OMIM:306955 |
Cardiofaciocutaneous Syndrome |
|
Palmoplantar keratoderma, Failure to thrive in infancy, Multiple lentigines, Generalized hyperpig... |
ORPHA:1340 |
Achondroplasia |
|
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha... |
OMIM:100800 |
Mucopolysaccharidosis Type 3 |
|
Pigmentary retinopathy, Recurrent tonsillitis, Ventriculomegaly, Umbilical hernia, Avascular necr... |
ORPHA:581 |
Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele |
ORPHA:2318 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Intrauterine growth retardat... |
ORPHA:314585 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Clinodactyly, Humeroradial synostosis, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis... |
ORPHA:95699 |
Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Overlapping toe, Hepatic steatosis, Cirrhosis, Hepatomegaly, Holopros... |
OMIM:270400 |
Joubert Syndrome |
|
Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele |
ORPHA:475 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Erlenmeyer flask deformity of the femurs, Hydrocephalus, Metaphyseal widening, ... |
OMIM:618476 |
Osteogenesis Imperfecta |
|
Rhizomelia, Calcification of the interosseus membrane of the forearm, Ventriculomegaly, Micromeli... |
ORPHA:666 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Absent radius |
OMIM:312190 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele |
ORPHA:220493 |
Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus, Congenital finger flexion contractures, Scapular winging, Neonatal... |
OMIM:620351 |
Cockayne Syndrome A |
|
Pigmentary retinopathy, Ventriculomegaly, Failure to thrive, Retinal pigment epithelial mottling,... |
OMIM:216400 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Pseudoepiphyses of the metacarpals, Ventriculomegaly, Failure to thrive, Short ... |
OMIM:194190 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Hand polydactyly, Encephalocele |
ORPHA:220497 |
Cryptococcosis |
|
Peritonitis, Cirrhosis, Hydrocephalus, Lymphoid leukemia, Mediastinal lymphadenopathy |
ORPHA:1546 |
Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Prominent fingertip pads, Umbilical her... |
OMIM:305450 |
Cockayne Syndrome B |
|
Pigmentary retinopathy, Failure to thrive, Ivory epiphyses of the phalanges of the hand, Intraute... |
OMIM:133540 |
Marshall-Smith Syndrome |
|
Slender finger, Short distal phalanx of finger, Ventriculomegaly, Failure to thrive, Prominent fi... |
OMIM:602535 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short distal phalanx of finger, Short toe, Hydrocephalus, Delayed ossification of carpal bones, T... |
OMIM:239300 |
Apert Syndrome |
|
Broad distal phalanx of the thumb, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Ve... |
OMIM:101200 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Ventriculomegaly, Metatarsus valgus, Dandy-Walker malformation |
ORPHA:899 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus |
OMIM:614195 |
Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Obesity, Hydrocephalus |
OMIM:620155 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Genu valgum, Arachnodactyly, Talipes equinovarus... |
OMIM:182212 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Encephalocele, 2-3 toe syndactyly, Hydrocephalus, Postaxial hand poly... |
OMIM:264480 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus |
OMIM:615219 |
Neurofibromatosis Type 1 |
|
Chronic myelogenous leukemia, Inguinal freckling, Hypopigmented skin patches, Melanocytic nevus, ... |
ORPHA:636 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Peho Syndrome |
|
Ventriculomegaly, Hydrocephalus, Tapered finger |
ORPHA:2836 |
Desmosterolosis |
|
Ventriculomegaly, Joint contracture of the hand, Rhizomelia, Failure to thrive, Hydrocephalus, Bi... |
OMIM:602398 |
Apert Syndrome |
|
Ventriculomegaly, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Aplasia/Hypoplasia ... |
ORPHA:87 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly, Sandal gap, Abnormal fibula morphology |
ORPHA:1812 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachnodactyly, Hydrocephalus, Camptodacty... |
OMIM:207410 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Acrofacial Dysostosis 1, Nager Type |
|
Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact... |
OMIM:154400 |
Trisomy 8P |
|
Short fifth metatarsal, Annular pancreas, Clinodactyly of the 2nd finger, Short 1st metacarpal, C... |
ORPHA:264450 |
Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Failure to thrive, Fibular aplasia, Clinodactyly of the 5th finger... |
OMIM:300373 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:304340 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilatation, Bowing of the long bones, L... |
OMIM:210710 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardat... |
OMIM:236680 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flared metaphysis, Dislocation of the femoral head, Genu valgum, Brachydactyly, Hydrocephalus, Me... |
OMIM:616007 |
Mend Syndrome |
|
Failure to thrive, Broad hallux, Overlapping toe, Overlapping fingers, 2-3 toe syndactyly, Spotty... |
ORPHA:401973 |
Mend Syndrome |
|
Failure to thrive, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe synda... |
OMIM:300960 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Monosomy 9Q22.3 |
|
Palmar pits, Ventriculomegaly, Umbilical hernia, Large for gestational age, Polydactyly, Hydrocep... |
ORPHA:77301 |
1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:238769 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Small placenta, Ulnar deviation of the hand or of fingers of the hand, I... |
OMIM:208150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Pigmentary retinopathy, Dilated third ventricle, Lateral ventricle dilatation, ... |
OMIM:613154 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
Basal Cell Nevus Syndrome 2 |
|
Palmar pits, Hydrocephalus |
OMIM:620343 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Small hand, Lateral ventricle dilatation, Genu valgum, Cubitus valgus, Metatarsus adductus, Norma... |
ORPHA:300570 |
Shprintzen-Goldberg Syndrome |
|
Ventriculomegaly, Failure to thrive, Elbow dislocation, Umbilical hernia, Camptodactyly of finger... |
ORPHA:2462 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Ventriculomegaly, Encephalocele, Hydrocephalus, Adducted thumb, Dandy-Walker malformation |
OMIM:614643 |
Alexander Disease |
|
Hyperpigmented nevi, Aqueductal stenosis, Failure to thrive, Hydrocephalus |
ORPHA:58 |
Campomelic Dysplasia |
|
Spinal dysraphism, Short 1st metacarpal, Failure to thrive, Patellar hypoplasia, Shortening of al... |
OMIM:114290 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventriculomegaly, Hypopigmentation of the skin, Prominent fingertip pads, Fair hair, Slender buil... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ventriculomegaly, Hypopigmentation of the skin, Prominent fingertip pads, Fair hair, Slender buil... |
ORPHA:363958 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Anemia, Hydrocephalus |
ORPHA:3042 |
Kabuki Syndrome 1 |
|
Short 5th finger, Prominent fingertip pads, Lateral ventricle dilatation, Hydrocephalus, Autoimmu... |
OMIM:147920 |
Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Talipes equinovarus, Spina bifida... |
ORPHA:63259 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Intrauterine growth retardatio... |
OMIM:619475 |
Cole-Carpenter Syndrome |
|
Bowing of the long bones, Intrauterine growth retardation, Abnormal metaphysis morphology, Commun... |
ORPHA:2050 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Limb Body Wall Complex |
|
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Abnormality of the... |
ORPHA:2369 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Lateral Meningocele Syndrome |
|
Meningocele, Hydrocephalus, Umbilical hernia |
OMIM:130720 |
47,Xyy Syndrome |
|
Hydrocephalus, Finger clinodactyly |
ORPHA:8 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Umbilical hernia |
OMIM:601499 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Holoprosencephaly, Encephalocele |
OMIM:253800 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Tenorio Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616260 |
Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Clinodactyly, Radial deviation of finger, Myelomeningocele, Hepatic cysts, Poly... |
OMIM:311200 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Failure to thrive, Aqueductal stenosis, Hydrocephalus, Long fingers, Bilateral talipes equinovaru... |
OMIM:619512 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Hydrocephalus, Numerous pigmented freckles |
ORPHA:220295 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Short 4th metacarpal, Brachydactyly,... |
OMIM:109400 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Ventriculomegaly, Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly,... |
OMIM:616546 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dysplasia of the femoral head, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Bowing... |
ORPHA:536467 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
7Q11.23 Microduplication Syndrome |
|
Ventriculomegaly, Obesity, Single transverse palmar crease, Cubitus valgus, Hydrocephalus, Long f... |
ORPHA:96121 |
Arachnoid Cyst |
|
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele |
ORPHA:2356 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly, Failure to thrive |
ORPHA:395 |
Raine Syndrome |
|
Micromelia, Long hallux, Neonatal death, Bowing of the long bones, Brachydactyly, Hydrocephalus |
OMIM:259775 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Ventriculomegaly, Overlapping toe, Limited elbow extension, Palmoplantar cutis laxa, Hydrocephalus |
OMIM:123790 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Lateral ventricle dilatation, Failure to thrive, Hydrocephalus, Overweight |
OMIM:619575 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Hydrocephalus |
ORPHA:77298 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Talipes equinovarus, Ventriculomegaly, Hydrocephalus, Tapered finger |
OMIM:613603 |
Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Clinodactyly, Intrauterine growth retardation, Short humerus, Hypoplasia of th... |
OMIM:264090 |
Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly, Ventriculomegaly, Hydrocephalus |
OMIM:219730 |
Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Hydrocephalus, Hypoplasia of the radius, Spina bifida, Aqueducta... |
ORPHA:3412 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Hajdu-Cheney Syndrome |
|
Foot acroosteolysis, Failure to thrive, Umbilical hernia, Genu valgum, Fibular bowing, Crowded ca... |
OMIM:102500 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow f... |
OMIM:268300 |
Cerebrooculonasal Syndrome |
|
Ventriculomegaly, Encephalocele, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly... |
OMIM:605627 |
Marden-Walker Syndrome |
|
Failure to thrive, Camptodactyly of finger, Intrauterine growth retardation, Arachnodactyly, Radi... |
ORPHA:2461 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Syndactyly, Hydrocephalus, Umbilical hernia |
OMIM:104350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hydrocephalus, Ventriculomegaly, Encephalocele |
OMIM:613150 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Oligodactyly, Hydrocephalus, Hypoplasia of the radius, Ectrodactyly |
ORPHA:3016 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... |
OMIM:619895 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Neurofibromatosis, Type I |
|
Inguinal freckling, Tibial pseudarthrosis, Genu valgum, Multiple cafe-au-lait spots, Spina bifida... |
OMIM:162200 |
Gorlin Syndrome |
|
Palmar pits, Melanocytic nevus, Arachnodactyly, Brachydactyly, Hydrocephalus |
ORPHA:377 |
Aymé-Gripp Syndrome |
|
Ventriculomegaly, Reduced arm span, Radioulnar synostosis, Hydrocephalus, Camptodactyly, Clinodac... |
ORPHA:1272 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Ventriculomegaly, Hepatic steatosis, Hepatic calcification, Hydrocephalus, Hepatomegaly |
ORPHA:228308 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad thumb, Lateral ventricle dilatation, Cholestasis, Congenital hepatic fibrosis, Neonatal dea... |
OMIM:619534 |
Kabuki Syndrome |
|
Short 5th finger, Small hand, Ventriculomegaly, Failure to thrive, Obesity, Hydrocephalus, Short ... |
ORPHA:2322 |
Focal Dermal Hypoplasia |
|
Toe syndactyly, Foot polydactyly, Short metacarpal, Hypopigmentation of the skin, Myelomeningocel... |
OMIM:305600 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Fraser Syndrome 3 |
|
Hydrocephalus, Cutaneous syndactyly, Short toe, Stillbirth |
OMIM:617667 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Meningoencephalocele, Dandy-Walker malf... |
OMIM:236670 |
Medulloblastoma |
|
Abnormal bone marrow cell morphology, Hydrocephalus |
ORPHA:616 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616538 |
Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Bilateral talipes equinovarus, Men... |
OMIM:600145 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:217090 |
Yunis-Varon Syndrome |
|
Absent thumb, Short toe, Aplasia of the distal phalanx of the hallux, Shortening of all distal ph... |
ORPHA:3472 |
Baller-Gerold Syndrome |
|
Radial deviation of the hand, Absent thumb, Forearm undergrowth, Patellar hypoplasia, Carpal syno... |
OMIM:218600 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hydrocephalus, Hepatic calcification |
ORPHA:157 |
Fontaine Progeroid Syndrome |
|
Short distal phalanx of finger, Failure to thrive, Umbilical hernia, Intrauterine growth retardat... |
OMIM:612289 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short distal phalanx of finger, Broad thumb, Polysplenia, Umbilical hernia, Short finger, Splenom... |
OMIM:312870 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus |
ORPHA:3301 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly |
ORPHA:2166 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Hydrocephalus, Lymphadenopat... |
ORPHA:538 |
Costello Syndrome |
|
Ventriculomegaly, Failure to thrive, Limited elbow movement, Talipes equinovarus, Deep palmar cre... |
OMIM:218040 |
Mucopolysaccharidosis Type 2 |
|
Umbilical hernia, Abnormality of retinal pigmentation, Splenomegaly, Hepatomegaly, Enlarged tonsi... |
ORPHA:580 |
Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Townes-Brocks Syndrome 1 |
|
Broad thumb, Small for gestational age, Umbilical hernia, Preaxial hand polydactyly, 3-4 toe synd... |
OMIM:107480 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... |
OMIM:610828 |
Knobloch Syndrome |
|
Lymphangioma, Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules |
ORPHA:25 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Tetraamelia Syndrome 1 |
|
Asplenia, Hydrocephalus |
OMIM:273395 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis, Brachydactyly, Short palm, Hy... |
ORPHA:2658 |
Isotretinoin-Like Syndrome |
|
Intrauterine growth retardation, Hydrocephalus |
ORPHA:2306 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypopigmented skin patches, Failure to thrive, Abnormality of retinal pigmentation, Hyperpigmenta... |
ORPHA:2556 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Branchial fistula, Camptodactyly of finger, Camptodactyly of toe, Hydrocephalus, ... |
ORPHA:261337 |
Peters-Plus Syndrome |
|
Rhizomelia, Ventriculomegaly, Short toe, Umbilical hernia, Intrauterine growth retardation, Clino... |
OMIM:261540 |
Neurooculorenal Syndrome |
|
Ventriculomegaly, Short 1st metacarpal, Talipes equinovarus, Short hallux, Hydrocephalus, Aqueduc... |
OMIM:620305 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Communicating hydrocephalus |
ORPHA:1780 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Broad hallux, Postaxial polydactyly, Hydrocephalus, Clinodactyly of the 5th finger |
ORPHA:457284 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Ventriculomegaly, Large for gestational age, Arachnodactyly, Large hands, Communicating hydroceph... |
OMIM:617011 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hydrocephalus, Failure to thrive |
ORPHA:137675 |
Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Hydrocephalus, Short palm |
ORPHA:268249 |
Lhermitte-Duclos Disease |
|
Hand polydactyly, Hydrocephalus |
ORPHA:65285 |
Sturge-Weber Syndrome |
|
Heterochromia iridis, Hydrocephalus |
ORPHA:3205 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Tetrasomy 9P |
|
Small hand, Umbilical hernia, Intrauterine growth retardation, Clinodactyly of the 5th finger, Ab... |
ORPHA:3310 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Pigmentary retinopathy, Hydrocephalus, Single transverse palmar crease |
OMIM:309801 |
Craniopharyngioma |
|
Obesity, Hydrocephalus |
ORPHA:54595 |
Full Nf2-Related Schwannomatosis |
|
Hyperpigmentation of the skin, Myelopathy, Hydrocephalus |
ORPHA:637 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Hydrocephalus |
OMIM:175780 |
Fraser Syndrome 1 |
|
Myelomeningocele, Cutaneous finger syndactyly, Encephalocele, Aplasia/Hypoplasia of the thumb, Hy... |
OMIM:219000 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Abnormality of the lymphatic system |
ORPHA:137667 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Femoral bowing, Single tran... |
OMIM:616462 |
Wiedemann-Rautenstrauch Syndrome |
|
Pigmentary retinopathy, Failure to thrive, Camptodactyly of finger, Slender build, Intrauterine g... |
ORPHA:3455 |
Holoprosencephaly 9 |
|
Alobar holoprosencephaly, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Occipital... |
OMIM:610829 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Ventriculomegaly, Slender build, Large for gestational age, Arachnodactyly, Communicating hydroce... |
ORPHA:457359 |
Peters Plus Syndrome |
|
Rhizomelia, Toe syndactyly, Ventriculomegaly, Short toe, Micromelia, Umbilical hernia, Intrauteri... |
ORPHA:709 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Communicating hydrocephalus, Anencephal... |
OMIM:615287 |
Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus |
OMIM:313850 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Inguinal freckling, Granuloma, Abnormal tibia morphology, Genu valgum, Hydrocephalus, Large hands... |
ORPHA:363700 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fifth metatarsal, Slender finger, Short finger, Intrauterine growth retardation, Single tra... |
OMIM:619841 |
Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Umbilical hernia, Absent distal phalanges, Arachnodactyly, Talipes... |
OMIM:610168 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Failure to thrive, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Failure to thrive, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Failure to thrive, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Failure to thrive, Neural tube defect |
ORPHA:93924 |
Meningioma |
|
Obesity, Hydrocephalus |
ORPHA:2495 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Short 5th finger, Lateral ventricle dilatation, Camptodactyly of finger, Obesity, Brachydactyly, ... |
OMIM:607872 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Hydrocephalus |
OMIM:261740 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus |
ORPHA:2736 |
Tuberous Sclerosis Complex |
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Pulmonary lymphangiomyomatosis, Hepatic cysts, Hypomelanotic macule, Subependymal nodules, Noncom... |
ORPHA:805 |
Loeys-Dietz Syndrome 1 |
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Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydac... |
OMIM:609192 |
Coffin-Siris Syndrome 12 |
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Slender finger, Broad thumb, Short thumb, Failure to thrive, Radioulnar synostosis, Cutaneous syn... |
OMIM:619325 |
Oeis Complex |
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Myelomeningocele, Talipes equinovarus, Hydrocephalus |
OMIM:258040 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hydrocephalus |
ORPHA:91350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Ventriculomegaly, Hydrocephalus |
OMIM:253280 |
Hypoplasminogenemia |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida |
ORPHA:322 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Genu valgum, Branchial anomaly, Partial duplication of thumb phalanx, Hy... |
OMIM:164210 |